Choreoacanthocytosis: Description, Causes and Risk Factors:Choreoacanthocytosis is a rare hereditary disease caused by a mutation of the gene that directs structural proteins in red blood cells. It belongs to a group of four diseases characterized under the name Neuroacanthocytosis. When a patient's blood is viewed under a microscope, some of the red blood cells appear thorny. These thorny cells are called acanthocytes.VPS13A, which encodes chorein, is the only gene in which mutation is currently known to cause choreoacanthocytosis.ChoreoacanthocytosisChoreoacanthocytosis is inherited in an autosomal-recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.Other effects of the disease may include epilepsy, behavior changes, muscle degeneration, and neuronal degradation similar to Huntington's disease. The average age of onset of symptoms is 35 years. The disease is incurable and inevitably leads to premature death.Some more information about choreoacanthocytosis is that it is a very complex autosomal recessive adult-onset neurodegenerative disorder. It often shows itself as a mixed movement disorder, in which chorea, tics, dystonia and even Parkinsonism may appear as a symptom.This disease is also characterized by the presence of a few different movement disorders including chorea, dystonia etc. Choreoacanthocytosis is considered an autosomal recessive disorder, although a few cases with autosomal dominant inheritance have been noted.Mean age of onset in choreoacanthocytosis is about 30 years, although choreoacanthocytosis can develop as early as the first decade or as late as the seventh decade. It runs a chronic progressive course and may lead to major disability within a few years. Life expectancy is reduced, with age of death ranging from 28 to 61 years.Symptoms:The disease is characterized by a variable combination of involuntary movements, cognitive decline, behavioral changes, seizures, and polyneuropathy, which may take years to evolve into a classic Multisystem involvement.Symptoms typically begin between 20 and 40 years of age, but earlier and later onset occurs as well.Initial presentation with choreoathetosis, orofacial dyskinesia, buccolingual self-mutilation, tics, and obsessive-compulsive symptoms is suggestive of choreoacanthocytosis. However, the early clinical course is occasionally dominated by dystonia,Parkinsonism,seizures,lower motor neuron signs,depression, or psychosis.Diagnosis:The diagnosis of choreoacanthocytosis is based primarily on clinical findings, the presence of characteristic MRI findings, and evidence of muscle disease. CT and MRI reveal atrophy of the caudate nuclei with dilatation of the anterior horns of the lateral ventricles. MRI commonly shows T2-weighted signal increase in the caudate and putamen. Acanthocytes are present in 5-50% of the red cell population. In some cases, acanthocytosis may be absent or may appear only late in the course of the disease. Increased serum concentration of muscle creatine kinase (CK) is observed in the majority of affected individuals. Muscle biopsy reveals central nuclei and atrophic fibers.Prenatal testing is possible for families in which the disease-causing mutations are known.Treatment:Treatment is purely symptomatic, and may include: Botulinum toxin for decreasing the oro-facio-bucco-lingual dystonia; feeding assistance; speech therapy; mechanical protective devices; splints for foot drop; phenytoin, clobazam, valproate, and levetiracetam for seizure management; antidepressant or antipsychotic medications; dopamine antagonists/depleters such as atypical neuroleptics or tetrabenazine; deep brain stimulation might be considered but outcomes are variable and data limited.Monitoring of nutritional status and adaptation of diet to assure adequate caloric intake.NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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